Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability
Year: 2013
Type: article
Study design: Case Report
Authors: Frederic Tran Mau-Them, Marjolaine Willems, Beate Albrecht, Elodie Sanchez, Jacques Puechberty, Sabine Endele, Anouck Schneider, Nathalie Ruiz Pallares, Chantal Missirian, Francois Rivier, Manon Girard, Muriel Holder, Sylvie Manouvrier, Isabelle Touitou, Genevieve Lefort, Pierre Sarda, Anne Moncla, Severine Drunat, Dagmar Wieczorek, David Genevieve
Institutions: Centre Hospitalier Universitaire de Montpellier, Hôpital Arnaud de Villeneuve, Université Montpellier 1, Institute for Regenerative Medicine & Biotherapy, Essen University Hospital, University of Duisburg-Essen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Université de Montpellier, Hôpital de la Timone, Hôpital Saint Eloi, Centre Hospitalier Universitaire de Lille, Hôpital Jeanne de Flandre, Assistance Publique – Hôpitaux de Paris, Hôpital Robert-Debré
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2000448853